Canonical Allele Identifier: CA2695237387
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725698_153725712delinsCCC , CM000685.2:g.153725698_153725712delinsCCC GRCh38
NC_000023.10:g.152991153_152991167delinsCCC , CM000685.1:g.152991153_152991167delinsCCC GRCh37
NC_000023.9:g.152644347_152644361delinsCCC NCBI36
NG_009022.2:g.5831_5845delinsCCC
NG_023231.1:g.4035_4049delinsGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.432_446delinsCCC MANE Select ENSP00000218104.3:p.Thr145_Ser149delinsPr...
ENST00000218104.5:c.432_446delinsCCC ENSP00000218104.3:p.Thr145_Ser149delinsPr...
NM_000033.3:c.432_446delinsCCC NP_000024.2:p.Thr145_Ser149delinsPro
XR_938507.1:n.848_862delinsCCC
XR_938507.2:n.848_862delinsCCC
NM_000033.4:c.432_446delinsCCC MANE Select NP_000024.2:p.Thr145_Ser149delinsPro